Canonical Allele Identifier: CA9129737

Gene: C3

Linked Data

• ClinVar Variation Id: 330337
• ClinVar RCV Id: RCV000260974 ; RCV000316235 ; RCV000360459 ; RCV001319506
• dbSNP Id: rs756694755
• ExAC: 19:6714178 G / A
• gnomAD v2: 19-6714178-G-A
• gnomAD v3: 19-6714167-G-A
• gnomAD v4: 19-6714167-G-A
• MyVariant Identifiers: chr19:g.6714178G>A (hg19) ; chr19:g.6714167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714167G>A , CM000681.2:g.6714167G>A	GRCh38
NC_000019.9:g.6714178G>A , CM000681.1:g.6714178G>A	GRCh37
NC_000019.8:g.6665178G>A	NCBI36
NG_009557.1:g.11485C>T , LRG_27:g.11485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.558C>T	ENSP00000512083.1:p.Tyr186=
ENST00000245907.11:c.681C>T MANE Select	ENSP00000245907.4:p.Tyr227=
ENST00000245907.10:c.681C>T	ENSP00000245907.4:p.Tyr227=
ENST00000595577.1:n.185C>T
NM_000064.3:c.681C>T	NP_000055.2:p.Tyr227=
NM_000064.4:c.681C>T MANE Select	NP_000055.2:p.Tyr227=